| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.76346149G>A | CA481010797 | BBS10 | c.1836C>T (p.Tyr612=) | |
| 12 | g.76346149G>C | CA385809646 | BBS10 | c.1836C>G (p.Tyr612Ter) | |
| 12 | g.76346149G>T | CA385809649 | BBS10 | c.1836C>A (p.Tyr612Ter) | |
| 12 | g.76346150T>A | CA385809653 | BBS10 | c.1835A>T (p.Tyr612Phe) | |
| 12 | g.76346150T>C | CA385809655 | BBS10 | c.1835A>G (p.Tyr612Cys) | gnomAD v4 |
| 12 | g.76346150T>G | CA385809659 | BBS10 | c.1835A>C (p.Tyr612Ser) | |
| 12 | g.76346151A>C | CA385809666 | BBS10 | c.1834T>G (p.Tyr612Asp) | |
| 12 | g.76346151A>G | CA385809671 | BBS10 | c.1834T>C (p.Tyr612His) | |
| 12 | g.76346151A>T | CA385809675 | BBS10 | c.1834T>A (p.Tyr612Asn) | |
| 12 | g.76346152del | CA2573148986 | BBS10 | c.1834del (p.Tyr612ThrfsTer20) | ClinVar dbSNP |
| 12 | g.76346152A>C | CA385809678 | BBS10 | c.1833T>G (p.His611Gln) | |
| 12 | g.76346152A>G | CA481010816 | BBS10 | c.1833T>C (p.His611=) | |
| 12 | g.76346152A>T | CA385809681 | BBS10 | c.1833T>A (p.His611Gln) | |
| 12 | g.76346153T>A | CA385809691 | BBS10 | c.1832A>T (p.His611Leu) | |
| 12 | g.76346153T>C | CA385809685 | BBS10 | c.1832A>G (p.His611Arg) | dbSNP |
| 12 | g.76346153T>G | CA385809688 | BBS10 | c.1832A>C (p.His611Pro) | |
| 12 | g.76346153T= | CA2047353185 | BBS10 | c.1832A= (p.His611=) | |
| 12 | g.76346154G>A | CA385809694 | BBS10 | c.1831C>T (p.His611Tyr) | |
| 12 | g.76346154G>C | CA385809696 | BBS10 | c.1831C>G (p.His611Asp) | gnomAD v4 |
| 12 | g.76346154G>T | CA385809698 | BBS10 | c.1831C>A (p.His611Asn) | |
| 12 | g.76346155T>A | CA385809703 | BBS10 | c.1830A>T (p.Leu610Phe) | |
| 12 | g.76346155T>C | CA481010825 | BBS10 | c.1830A>G (p.Leu610=) | |
| 12 | g.76346155T>G | CA385809706 | BBS10 | c.1830A>C (p.Leu610Phe) | |
| 12 | g.76346155_76346156insTT | CA2619945590 | BBS10 | c.1830_1831insAA (p.His611AsnfsTer22) | gnomAD v4 |
| 12 | g.76346156A= | CA2047353186 | BBS10 | c.1829T= (p.Leu610=) | |
| 12 | g.76346156A>C | CA385809712 | BBS10 | c.1829T>G (p.Leu610Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.76346156A>G | CA385809715 | BBS10 | c.1829T>C (p.Leu610Ser) | |
| 12 | g.76346156A>T | CA385809718 | BBS10 | c.1829T>A (p.Leu610Ter) | |
| 12 | g.76346157A>C | CA385809721 | BBS10 | c.1828T>G (p.Leu610Val) | gnomAD v4 |
| 12 | g.76346157A>G | CA481010834 | BBS10 | c.1828T>C (p.Leu610=) | ClinVar |
| 12 | g.76346157A>T | CA385809724 | BBS10 | c.1828T>A (p.Leu610Ile) | |
| 12 | g.76346158C>A | CA6694099 | BBS10 | c.1827G>T (p.Leu609Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.76346158C= | CA2047353187 | BBS10 | c.1827G= (p.Leu609=) | |
| 12 | g.76346158C>G | CA385809730 | BBS10 | c.1827G>C (p.Leu609Phe) | |
| 12 | g.76346158C>T | CA481010837 | BBS10 | c.1827G>A (p.Leu609=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.76346159A= | CA2047353188 | BBS10 | c.1826T= (p.Leu609=) | |
| 12 | g.76346159A>C | CA385809737 | BBS10 | c.1826T>G (p.Leu609Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.76346159A>G | CA385809740 | BBS10 | c.1826T>C (p.Leu609Ser) | ClinVar gnomAD v4 |
| 12 | g.76346159A>T | CA385809735 | BBS10 | c.1826T>A (p.Leu609Ter) | |
| 12 | g.76346160A>C | CA385809743 | BBS10 | c.1825T>G (p.Leu609Val) | |
| 12 | g.76346160A>G | CA481010845 | BBS10 | c.1825T>C (p.Leu609=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.76346160A>T | CA385809746 | BBS10 | c.1825T>A (p.Leu609Met) | |
| 12 | g.76346161G>A | CA6694100 | BBS10 | c.1824C>T (p.Ile608=) | ClinVar dbSNP ExAC gnomAD v2 |
| 12 | g.76346161G>C | CA385809750 | BBS10 | c.1824C>G (p.Ile608Met) | |
| 12 | g.76346161G= | CA2047353189 | BBS10 | c.1824C= (p.Ile608=) | |
| 12 | g.76346161G>T | CA481010849 | BBS10 | c.1824C>A (p.Ile608=) | gnomAD v4 |
| 12 | g.76346162A>C | CA385809754 | BBS10 | c.1823T>G (p.Ile608Ser) | |
| 12 | g.76346162A>G | CA385809756 | BBS10 | c.1823T>C (p.Ile608Thr) | |
| 12 | g.76346162A>T | CA385809759 | BBS10 | c.1823T>A (p.Ile608Asn) | gnomAD v4 |
| 12 | g.76346163T>A | CA385809762 | BBS10 | c.1822A>T (p.Ile608Phe) |